Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10157379
rs10157379
3 1 247442297 intron variant C/G;T snv 0.800 1.000 2 2013 2016
dbSNP: rs12239046
rs12239046
9 1 247438293 intron variant T/C snv 0.58 0.800 1.000 2 2011 2017
dbSNP: rs1539019
rs1539019
6 0.882 0.240 1 247436999 intron variant A/C snv 0.63 0.800 1.000 2 2009 2011
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.700 1.000 2 2009 2013
dbSNP: rs4129267
rs4129267
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.800 1.000 2 2011 2013
dbSNP: rs61812598
rs61812598
4 1.000 0.080 1 154447611 intron variant G/A snv 0.31 0.700 1.000 2 2016 2017
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.700 1.000 2 2009 2017
dbSNP: rs10489615
rs10489615
3 1 230169242 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10864726
rs10864726
1 1 230160406 intron variant C/T snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs11102001
rs11102001
4 0.925 0.080 1 109757069 missense variant G/A snv 9.4E-02 0.16 0.700 1.000 1 2014 2014
dbSNP: rs1892534
rs1892534
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1938492
rs1938492
3 1 65652146 intergenic variant A/C snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs2376015
rs2376015
1 1 65658091 intergenic variant A/G snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs4537545
rs4537545
11 0.790 0.160 1 154446403 intron variant C/T snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs4655582
rs4655582
1 1 65687680 regulatory region variant C/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs4925659
rs4925659
3 1 247440161 intron variant G/A snv 0.33 0.700 1.000 1 2011 2011
dbSNP: rs7518199
rs7518199
4 1 154434943 intron variant A/C;T snv 0.39; 4.2E-06 0.700 1.000 1 2011 2011
dbSNP: rs7529229
rs7529229
8 0.851 0.120 1 154448302 intron variant T/C snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs6734238
rs6734238
8 1.000 0.080 2 113083453 upstream gene variant A/G snv 0.39 0.800 1.000 3 2013 2017
dbSNP: rs715
rs715
13 1.000 0.040 2 210678331 3 prime UTR variant T/C snv 0.28 0.800 1.000 3 2013 2017
dbSNP: rs1476698
rs1476698
3 2 241357034 intron variant A/G;T snv 0.800 1.000 2 2013 2017
dbSNP: rs1558643
rs1558643
1 2 102115231 intron variant T/C;G snv 0.700 1.000 2 2016 2017
dbSNP: rs59104589
rs59104589
1 2 241298487 intron variant C/T snv 0.30 0.700 1.000 2 2016 2017
dbSNP: rs1047891
rs1047891
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2009 2009
dbSNP: rs12712127
rs12712127
3 2 102110201 intron variant A/G snv 0.62 0.800 1.000 1 2013 2013